Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system. The authors report the case of a patient with cutaneous lesions and histological findings that are compatible with the vesicular stage, emphasizing the importance of early diagnosis and appropriate therapeutic management.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4056709PMC
http://dx.doi.org/10.1590/abd1806-4841.20143043DOI Listing

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Article Synopsis
  • Incontinentia pigmenti (IP) is a rare X-linked dominant disorder linked to the IKBKG gene, and this study highlights the need for more research on its epidemiology in Denmark.
  • A nationwide study identified 75 patients with IP, predominantly females, and estimated the birth prevalence at 2.37 per 100,000 live births, which is significantly higher than previous estimates.
  • The study found that many patients exhibited typical skin lesions and other symptoms affecting teeth, the nervous system, hair, eyes, and nails, indicating a multisystem impact of the disorder.
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